Mutagenetix > Incidental Mutation

Incidental Mutation 'R5121:Fbln1'

393067

Institutional Source

Beutler Lab

Gene Symbol

Fbln1

Ensembl Gene

ENSMUSG00000006369

Gene Name

fibulin 1

Synonyms

MMRRC Submission

042709-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.879) question?

Stock #

R5121 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

85090150-85170495 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85121872 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 331 (E331G)

Ref Sequence

ENSEMBL: ENSMUSP00000105058 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057410] [ENSMUST00000109432]

AlphaFold

Q08879

Predicted Effect

probably damaging
Transcript: ENSMUST00000057410
AA Change: E331G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000054583
Gene: ENSMUSG00000006369
AA Change: E331G

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
ANATO	36	69	3.67e-9	SMART
ANATO	77	110	1.61e-5	SMART
ANATO	112	144	2.23e-8	SMART
EGF	181	217	2.32e-1	SMART
EGF_CA	218	263	5.08e-7	SMART
EGF_CA	264	309	5.44e-7	SMART
EGF_CA	310	357	9.62e-8	SMART
EGF_CA	358	400	1.11e-12	SMART
EGF_CA	401	442	4.77e-12	SMART
EGF_CA	443	482	1.98e-9	SMART
EGF_CA	483	526	4.7e-11	SMART
EGF	530	580	1.25e1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000109432
AA Change: E331G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000105058
Gene: ENSMUSG00000006369
AA Change: E331G

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
ANATO	36	69	3.67e-9	SMART
ANATO	77	110	1.61e-5	SMART
ANATO	112	144	2.23e-8	SMART
EGF	181	217	2.32e-1	SMART
EGF_CA	218	263	5.08e-7	SMART
EGF_CA	264	309	5.44e-7	SMART
EGF_CA	310	357	9.62e-8	SMART
EGF_CA	358	400	1.11e-12	SMART
EGF_CA	401	442	4.77e-12	SMART
EGF_CA	443	482	1.98e-9	SMART
EGF_CA	483	526	4.7e-11	SMART
EGF_CA	527	571	7.18e-7	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Fibulin 1 is a secreted glycoprotein that becomes incorporated into a fibrillar extracellular matrix. Calcium-binding is apparently required to mediate its binding to laminin and nidogen. It mediates platelet adhesion via binding fibrinogen. Four splice variants which differ in the 3' end have been identified. Each variant encodes a different isoform, but no functional distinctions have been identified among the four variants. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruption of this gene develop problems with spontaneous bleeding as embryos. Most die within the first two days of life. Those that survive this period develop normally and eventually recover from their early developmental abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1c	A	G	2: 58,171,662 (GRCm39)	I234T	probably damaging	Het
Adam24	A	G	8: 41,132,550 (GRCm39)	E6G	probably damaging	Het
Amz1	A	G	5: 140,729,919 (GRCm39)	D151G	probably benign	Het
Arhgap24	T	C	5: 102,989,201 (GRCm39)	L10P	probably damaging	Het
Arhgap25	T	G	6: 87,509,846 (GRCm39)	N8T	probably benign	Het
Arsi	T	G	18: 61,050,511 (GRCm39)	F465V	probably damaging	Het
Atp2c1	A	G	9: 105,326,024 (GRCm39)	V293A	probably damaging	Het
Bzw2	A	G	12: 36,154,350 (GRCm39)	L340P	probably damaging	Het
Camkmt	C	T	17: 85,404,009 (GRCm39)	T77I	probably benign	Het
Camsap1	G	T	2: 25,825,562 (GRCm39)	Q1375K	probably benign	Het
Catsper2	G	T	2: 121,227,604 (GRCm39)		probably null	Het
Cd163	T	C	6: 124,294,948 (GRCm39)	C671R	probably damaging	Het
Cdk7	T	C	13: 100,854,192 (GRCm39)		probably null	Het
Cfi	C	T	3: 129,666,726 (GRCm39)	P483L	probably damaging	Het
Chn2	C	T	6: 54,195,546 (GRCm39)	L72F	possibly damaging	Het
Cimip4	C	T	15: 78,270,373 (GRCm39)	E132K	probably benign	Het
Cntn2	C	A	1: 132,444,798 (GRCm39)	E363*	probably null	Het
Crebbp	T	C	16: 3,911,375 (GRCm39)	E999G	probably damaging	Het
Cspp1	T	A	1: 10,196,688 (GRCm39)	N900K	probably damaging	Het
Cts3	A	C	13: 61,715,409 (GRCm39)	I141M	probably benign	Het
Cwc27	A	T	13: 104,940,861 (GRCm39)	V166D	probably damaging	Het
Defb26	T	C	2: 152,350,085 (GRCm39)	E65G	possibly damaging	Het
Dnah8	A	G	17: 31,029,327 (GRCm39)	T4099A	probably benign	Het
Eml6	A	G	11: 29,694,606 (GRCm39)	F1953L	probably benign	Het
Etl4	T	A	2: 20,344,922 (GRCm39)		probably null	Het
Gabra4	G	A	5: 71,729,546 (GRCm39)	H76Y	probably benign	Het
Gcat	T	C	15: 78,919,482 (GRCm39)	V149A	probably damaging	Het
Glp2r	A	T	11: 67,612,926 (GRCm39)		probably null	Het
Gm572	T	C	4: 148,751,302 (GRCm39)		probably null	Het
Golgb1	T	C	16: 36,739,620 (GRCm39)	V2653A	probably damaging	Het
Grap2	G	A	15: 80,530,345 (GRCm39)	R155Q	possibly damaging	Het
Gspt1	T	A	16: 11,041,165 (GRCm39)	I533L	probably damaging	Het
Gypa	A	T	8: 81,222,977 (GRCm39)	Y27F	unknown	Het
Hipk4	G	A	7: 27,228,917 (GRCm39)	V456I	probably benign	Het
Homer2	A	T	7: 81,299,311 (GRCm39)	D51E	probably benign	Het
Hspa1b	A	T	17: 35,176,980 (GRCm39)	V335E	possibly damaging	Het
Ift122	A	G	6: 115,889,495 (GRCm39)	T827A	probably benign	Het
Igkv1-35	T	C	6: 69,988,119 (GRCm39)	N58S	probably benign	Het
Kat6b	A	T	14: 21,669,326 (GRCm39)	H297L	probably damaging	Het
Kirrel3	G	T	9: 34,924,601 (GRCm39)	G296W	probably damaging	Het
Klhl17	A	G	4: 156,315,082 (GRCm39)	V525A	probably benign	Het
Lrrn1	G	T	6: 107,546,168 (GRCm39)	R655S	possibly damaging	Het
Ltk	T	C	2: 119,583,708 (GRCm39)	N256D	probably damaging	Het
Mill2	G	A	7: 18,590,591 (GRCm39)	G209S	probably benign	Het
Mmp27	A	T	9: 7,581,369 (GRCm39)	H544L	probably benign	Het
Mphosph10	A	G	7: 64,039,344 (GRCm39)	S209P	probably damaging	Het
Mphosph8	A	T	14: 56,914,003 (GRCm39)	K415*	probably null	Het
Myb	T	A	10: 21,002,137 (GRCm39)	M616L	probably benign	Het
Myo15b	C	T	11: 115,776,880 (GRCm39)	R867W	probably damaging	Het
Myo18b	A	T	5: 113,022,346 (GRCm39)		probably benign	Het
Nip7	A	G	8: 107,783,589 (GRCm39)	E8G	possibly damaging	Het
Optn	T	A	2: 5,050,917 (GRCm39)	I155F	probably benign	Het
Or2f1b	T	A	6: 42,739,931 (GRCm39)	L315*	probably null	Het
Or4f62	A	T	2: 111,986,631 (GRCm39)	M112L	possibly damaging	Het
Or52e4	A	G	7: 104,705,689 (GRCm39)	T79A	possibly damaging	Het
Or5c1	T	G	2: 37,222,601 (GRCm39)	F281V	probably damaging	Het
Or6b6	T	C	7: 106,571,438 (GRCm39)	I38V	probably benign	Het
Papolb	A	T	5: 142,514,592 (GRCm39)	H350Q	probably benign	Het
Pappa2	T	A	1: 158,666,197 (GRCm39)	M1128L	probably benign	Het
Pcdhb5	T	A	18: 37,454,170 (GRCm39)	N183K	probably benign	Het
Pde12	G	T	14: 26,390,577 (GRCm39)	S44*	probably null	Het
Peg3	T	C	7: 6,713,288 (GRCm39)	K645E	probably benign	Het
Pkd1	C	T	17: 24,792,437 (GRCm39)	R1375C	probably benign	Het
Plekha5	G	A	6: 140,525,200 (GRCm39)	E21K	probably damaging	Het
Plk2	C	T	13: 110,535,958 (GRCm39)	P554L	probably benign	Het
Pnkp	C	T	7: 44,511,827 (GRCm39)	S113L	probably damaging	Het
Polg	A	T	7: 79,114,353 (GRCm39)	W203R	probably damaging	Het
Ppcdc	A	G	9: 57,328,446 (GRCm39)	V65A	possibly damaging	Het
Ppm1m	T	A	9: 106,073,004 (GRCm39)	Q353L	probably benign	Het
Ppp1r13l	G	C	7: 19,104,020 (GRCm39)	R167P	probably damaging	Het
Ppp1r9b	T	A	11: 94,887,479 (GRCm39)	V497E	probably damaging	Het
Prpf6	T	A	2: 181,277,836 (GRCm39)	H399Q	probably benign	Het
Psg25	T	A	7: 18,260,461 (GRCm39)	I146F	possibly damaging	Het
Rasgef1c	A	T	11: 49,851,256 (GRCm39)	Q116L	probably damaging	Het
Rbbp9	A	G	2: 144,392,676 (GRCm39)	V8A	possibly damaging	Het
Rfk	T	C	19: 17,376,930 (GRCm39)	F144S	probably damaging	Het
Rfwd3	A	C	8: 112,009,385 (GRCm39)		probably null	Het
Rhpn1	T	C	15: 75,581,109 (GRCm39)	I117T	probably damaging	Het
Sars2	A	T	7: 28,447,333 (GRCm39)	N244Y	probably damaging	Het
Scnn1b	A	T	7: 121,502,110 (GRCm39)	H256L	probably benign	Het
Sgcz	G	A	8: 38,006,821 (GRCm39)	T195I	probably damaging	Het
Sh3gl2	T	A	4: 85,297,494 (GRCm39)	H157Q	probably benign	Het
Spen	T	A	4: 141,203,410 (GRCm39)	Q1739L	probably benign	Het
Susd1	G	T	4: 59,379,657 (GRCm39)	S323R	possibly damaging	Het
Szt2	T	C	4: 118,242,641 (GRCm39)	E1482G	possibly damaging	Het
Tex15	A	T	8: 34,061,794 (GRCm39)	K408I	probably damaging	Het
Trem1	T	A	17: 48,539,864 (GRCm39)	F14L	probably null	Het
Trim26	G	T	17: 37,161,958 (GRCm39)	E126*	probably null	Het
Trpv3	T	C	11: 73,168,660 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,746,835 (GRCm39)		probably null	Het
Ubap1	C	T	4: 41,379,688 (GRCm39)	L301F	probably benign	Het
Uchl1	T	C	5: 66,833,780 (GRCm39)	M12T	probably benign	Het
Vill	C	T	9: 118,899,093 (GRCm39)	T253I	possibly damaging	Het
Vmn2r107	C	T	17: 20,576,015 (GRCm39)	T115I	probably benign	Het
Vmn2r98	T	C	17: 19,273,815 (GRCm39)	S21P	probably benign	Het
Wapl	A	G	14: 34,399,119 (GRCm39)	K63E	probably benign	Het
Wnt2	T	C	6: 18,023,125 (GRCm39)	K175E	possibly damaging	Het
Zfp592	T	C	7: 80,673,309 (GRCm39)	L91P	probably damaging	Het
Zfp74	T	C	7: 29,631,932 (GRCm39)		probably null	Het
Zglp1	A	T	9: 20,973,957 (GRCm39)	I243N	probably benign	Het
Zranb1	A	G	7: 132,551,916 (GRCm39)	E215G	probably benign	Het

Other mutations in Fbln1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00573:Fbln1	APN	15	85,111,238 (GRCm39)	missense	probably benign	0.00
IGL01017:Fbln1	APN	15	85,128,390 (GRCm39)	missense	possibly damaging	0.94
IGL02514:Fbln1	APN	15	85,128,463 (GRCm39)	nonsense	probably null
IGL02693:Fbln1	APN	15	85,113,775 (GRCm39)	missense	probably benign	0.00
IGL02734:Fbln1	APN	15	85,111,182 (GRCm39)	missense	probably damaging	1.00
IGL02964:Fbln1	APN	15	85,115,663 (GRCm39)	missense	probably damaging	1.00
IGL03176:Fbln1	APN	15	85,128,507 (GRCm39)	missense	possibly damaging	0.69
IGL03274:Fbln1	APN	15	85,116,879 (GRCm39)	critical splice donor site	probably null
R0090:Fbln1	UTSW	15	85,108,489 (GRCm39)	missense	possibly damaging	0.94
R0148:Fbln1	UTSW	15	85,115,027 (GRCm39)	missense	probably damaging	0.97
R0393:Fbln1	UTSW	15	85,111,277 (GRCm39)	missense	probably damaging	0.99
R0564:Fbln1	UTSW	15	85,111,308 (GRCm39)	missense	probably benign	0.07
R1276:Fbln1	UTSW	15	85,113,791 (GRCm39)	missense	probably damaging	1.00
R1592:Fbln1	UTSW	15	85,115,665 (GRCm39)	missense	probably benign	0.00
R1687:Fbln1	UTSW	15	85,111,307 (GRCm39)	missense	probably benign	0.02
R2312:Fbln1	UTSW	15	85,147,549 (GRCm39)	missense	probably benign	0.28
R2363:Fbln1	UTSW	15	85,111,341 (GRCm39)	critical splice donor site	probably null
R3082:Fbln1	UTSW	15	85,149,454 (GRCm39)	missense	probably benign	0.25
R3083:Fbln1	UTSW	15	85,149,454 (GRCm39)	missense	probably benign	0.25
R3751:Fbln1	UTSW	15	85,111,279 (GRCm39)	nonsense	probably null
R3752:Fbln1	UTSW	15	85,111,279 (GRCm39)	nonsense	probably null
R3753:Fbln1	UTSW	15	85,111,279 (GRCm39)	nonsense	probably null
R4028:Fbln1	UTSW	15	85,111,317 (GRCm39)	missense	probably benign	0.05
R4406:Fbln1	UTSW	15	85,115,757 (GRCm39)	critical splice donor site	probably null
R4407:Fbln1	UTSW	15	85,115,757 (GRCm39)	critical splice donor site	probably null
R4408:Fbln1	UTSW	15	85,115,757 (GRCm39)	critical splice donor site	probably null
R4612:Fbln1	UTSW	15	85,122,760 (GRCm39)	missense	probably benign	0.00
R4811:Fbln1	UTSW	15	85,111,167 (GRCm39)	critical splice acceptor site	probably null
R5022:Fbln1	UTSW	15	85,121,827 (GRCm39)	missense	probably damaging	0.99
R7231:Fbln1	UTSW	15	85,090,353 (GRCm39)	missense	unknown
R7285:Fbln1	UTSW	15	85,121,829 (GRCm39)	missense	probably benign	0.01
R7492:Fbln1	UTSW	15	85,111,262 (GRCm39)	missense	probably damaging	1.00
R7742:Fbln1	UTSW	15	85,124,917 (GRCm39)	missense	probably damaging	1.00
R8100:Fbln1	UTSW	15	85,169,357 (GRCm39)	missense	probably damaging	1.00
R8379:Fbln1	UTSW	15	85,116,773 (GRCm39)	missense	probably damaging	1.00
R9018:Fbln1	UTSW	15	85,126,215 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGCCCTGGGTATCTTGTAG -3'
(R):5'- TCACTTTGGAGACCAACTCTC -3'

Sequencing Primer
(F):5'- TGAAGGGGTCAGGGCCTG -3'
(R):5'- GAGACCAACTCTCCCTTCTAGAG -3'

Posted On

2016-06-15